Papageorgiou Eleni, Karamagkiolis Spyridon, Dimera Vasiliki
Center for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany.
Case Rep Ophthalmol. 2012 Jan;3(1):61-4. doi: 10.1159/000336779. Epub 2012 Feb 17.
WE REPORT THE FIRST CASE OF NONARTERITIC ANTERIOR ISCHEMIC NEUROPATHY (NAION) ASSOCIATED WITH DOUBLE THROMBOPHILIA: protein S deficiency and prothrombin G20210A mutation. A 58-year-old man is presented including the clinical and laboratory findings, cardiovascular profile and thrombophilia screening. The patient presented with 3/10 vision and an inferior altitudinal defect in the right eye. Funduscopic examination of the right eye revealed a hyperemic optic disk with blurred superior optic disk border and sectoral nerve fiber layer edema. Complete blood count, erythrocyte sedimentation rate and C-reactive protein were normal, suggesting a NAION. A workup of cardiovascular risk factors revealed hyperlipidemia, arterial hypertension and high-risk asymptomatic coronary artery disease. Due to the family history of deep vein thrombosis in the patient's daughter, a thrombophilia screening was additionally performed. The results revealed a double thrombophilic defect, namely congenital protein S deficiency and heterozygosity for prothrombin G20210A mutation, which were also identified in the patient's daughter. Anticoagulant warfarin therapy was initiated and the patient underwent a triple bypass surgery. At three-month follow-up, the right optic disk edema had resolved, leaving a pale superior optic nerve head. Visual acuity in the right eye had slightly improved to 4/10; however, the dense inferior altitudinal field defect had remained unchanged. The patient is currently treated with warfarin, atorvastatin, irbesartan and metoprolol. This case suggests that the first line of investigation in all patients with NAION involves assessment of cardiovascular risk factors. However, careful history taking will identify NAION patients who are eligible for additional thrombophilia screening: young patients without vasculopathic risk factors, bilateral or recurrent NAION, idiopathic or recurrent venous thromboembolism (VTE), positive family history of VTE, and VTE in young age or in unusual sites (e.g. cerebral, hepatic, mesenteric, or renal vein).
我们报告首例与双重易栓症相关的非动脉炎性前部缺血性视神经病变（NAION）：蛋白S缺乏症和凝血酶原G20210A突变。本文介绍了一名58岁男性患者的临床和实验室检查结果、心血管状况及易栓症筛查情况。该患者右眼视力为3/10，存在下方视野缺损。右眼眼底检查显示视盘充血，视盘上缘边界模糊，扇形神经纤维层水肿。全血细胞计数、红细胞沉降率和C反应蛋白均正常，提示为NAION。对心血管危险因素的检查发现患者患有高脂血症、动脉高血压和高危无症状冠状动脉疾病。由于患者女儿有深静脉血栓形成的家族史，因此额外进行了易栓症筛查。结果显示存在双重易栓缺陷，即先天性蛋白S缺乏症和凝血酶原G20210A突变杂合子，在患者女儿身上也发现了同样的情况。开始使用抗凝药物华法林治疗，患者接受了冠状动脉搭桥三联手术。在三个月的随访中，右眼视盘水肿消退，留下苍白的视盘上缘。右眼视力略有改善，提高到4/10；然而，密集的下方视野缺损仍未改变。患者目前正在接受华法林、阿托伐他汀、厄贝沙坦和美托洛尔治疗。该病例表明，所有NAION患者的一线检查都应包括评估心血管危险因素。然而，仔细询问病史将识别出有资格进行额外易栓症筛查的NAION患者：无血管病变危险因素的年轻患者、双侧或复发性NAION、特发性或复发性静脉血栓栓塞（VTE）、VTE家族史阳性，以及年轻时或在不寻常部位（如脑、肝、肠系膜或肾静脉）发生的VTE。
